Incidental Mutation 'R0905:Prdm14'
| ID |
83268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm14
|
| Ensembl Gene |
ENSMUSG00000042414 |
| Gene Name |
PR domain containing 14 |
| Synonyms |
|
| MMRRC Submission |
039063-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0905 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
13183681-13197387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13195662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 133
(G133D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047577]
|
| AlphaFold |
E9Q3T6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047577
AA Change: G133D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000044245
Gene: ENSMUSG00000042414
AA Change: G133D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
139 |
N/A |
INTRINSIC |
|
SET
|
244 |
362 |
2.8e-11 |
SMART |
|
low complexity region
|
373 |
389 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
390 |
410 |
1.4e-1 |
SMART |
|
ZnF_C2H2
|
422 |
445 |
5.3e-5 |
SMART |
|
ZnF_C2H2
|
451 |
473 |
3.2e-7 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
507 |
530 |
8.1e-5 |
SMART |
|
ZnF_C2H2
|
536 |
558 |
4.6e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.6%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PRDI-BF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays a critical role in cell pluripotency by suppressing the expression of differentiation marker genes. Expression of this gene may play a role in breast cancer. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased primordial germ cell numbers, absent germ cells, and sterility in both males and females. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
G |
A |
2: 20,854,745 (GRCm39) |
T1539M |
possibly damaging |
Het |
| Birc2 |
A |
T |
9: 7,851,052 (GRCm39) |
*138R |
probably null |
Het |
| Bsn |
C |
A |
9: 107,982,834 (GRCm39) |
D3640Y |
unknown |
Het |
| Bsph1 |
A |
T |
7: 13,184,839 (GRCm39) |
M1L |
probably benign |
Het |
| Cdkl1 |
A |
T |
12: 69,803,338 (GRCm39) |
Y179* |
probably null |
Het |
| Cfap74 |
G |
A |
4: 155,503,153 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
A |
T |
8: 70,843,905 (GRCm39) |
S454T |
probably damaging |
Het |
| Cspg5 |
A |
T |
9: 110,075,594 (GRCm39) |
D110V |
probably damaging |
Het |
| Cyp2w1 |
A |
T |
5: 139,342,194 (GRCm39) |
Y380F |
probably benign |
Het |
| Dbn1 |
T |
C |
13: 55,622,040 (GRCm39) |
|
probably benign |
Het |
| Epb41l4b |
T |
C |
4: 57,103,528 (GRCm39) |
K103E |
probably damaging |
Het |
| Eps8 |
C |
T |
6: 137,491,305 (GRCm39) |
V358I |
probably benign |
Het |
| Gm12253 |
G |
T |
11: 58,330,846 (GRCm39) |
|
probably benign |
Het |
| Hltf |
T |
A |
3: 20,163,033 (GRCm39) |
|
probably null |
Het |
| Hsd17b11 |
C |
T |
5: 104,157,744 (GRCm39) |
V123I |
probably benign |
Het |
| Il31ra |
T |
A |
13: 112,668,207 (GRCm39) |
E481V |
probably damaging |
Het |
| Impdh2 |
A |
G |
9: 108,438,296 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,253,999 (GRCm39) |
R750Q |
probably benign |
Het |
| Kndc1 |
A |
C |
7: 139,503,651 (GRCm39) |
K985T |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lgsn |
A |
T |
1: 31,242,824 (GRCm39) |
Y302F |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,174,197 (GRCm39) |
S1541P |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,907,292 (GRCm39) |
M528T |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Ndufs2 |
T |
C |
1: 171,063,922 (GRCm39) |
|
probably null |
Het |
| Nwd1 |
G |
A |
8: 73,436,077 (GRCm39) |
V1436M |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,900,230 (GRCm39) |
R109* |
probably null |
Het |
| Pml |
A |
G |
9: 58,156,822 (GRCm39) |
|
probably null |
Het |
| Ppfia2 |
T |
C |
10: 106,655,372 (GRCm39) |
I313T |
probably benign |
Het |
| Ptgr3 |
A |
G |
18: 84,113,332 (GRCm39) |
H336R |
probably benign |
Het |
| Pygl |
A |
G |
12: 70,257,791 (GRCm39) |
|
probably benign |
Het |
| Rassf10 |
C |
T |
7: 112,554,575 (GRCm39) |
T392M |
probably damaging |
Het |
| Rpe65 |
T |
C |
3: 159,307,220 (GRCm39) |
S54P |
possibly damaging |
Het |
| Sema5b |
T |
C |
16: 35,443,001 (GRCm39) |
V2A |
probably benign |
Het |
| Sgsm3 |
T |
C |
15: 80,895,546 (GRCm39) |
I699T |
probably damaging |
Het |
| Spn |
T |
C |
7: 126,735,503 (GRCm39) |
T335A |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,250,290 (GRCm39) |
D1834G |
probably damaging |
Het |
| Trp53bp1 |
C |
A |
2: 121,034,799 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
A |
T |
16: 94,257,648 (GRCm39) |
K1652* |
probably null |
Het |
|
| Other mutations in Prdm14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02149:Prdm14
|
APN |
1 |
13,195,663 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0099:Prdm14
|
UTSW |
1 |
13,189,169 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0243:Prdm14
|
UTSW |
1 |
13,192,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0312:Prdm14
|
UTSW |
1 |
13,189,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0576:Prdm14
|
UTSW |
1 |
13,195,949 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0781:Prdm14
|
UTSW |
1 |
13,184,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0791:Prdm14
|
UTSW |
1 |
13,195,968 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0792:Prdm14
|
UTSW |
1 |
13,195,968 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0855:Prdm14
|
UTSW |
1 |
13,195,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1467:Prdm14
|
UTSW |
1 |
13,194,756 (GRCm39) |
splice site |
probably benign |
|
|
R1747:Prdm14
|
UTSW |
1 |
13,192,627 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1771:Prdm14
|
UTSW |
1 |
13,189,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Prdm14
|
UTSW |
1 |
13,195,954 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2170:Prdm14
|
UTSW |
1 |
13,192,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2432:Prdm14
|
UTSW |
1 |
13,195,857 (GRCm39) |
missense |
probably benign |
|
|
R4948:Prdm14
|
UTSW |
1 |
13,192,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Prdm14
|
UTSW |
1 |
13,189,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6902:Prdm14
|
UTSW |
1 |
13,192,645 (GRCm39) |
missense |
probably benign |
|
|
R7452:Prdm14
|
UTSW |
1 |
13,195,783 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8066:Prdm14
|
UTSW |
1 |
13,184,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8265:Prdm14
|
UTSW |
1 |
13,184,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Prdm14
|
UTSW |
1 |
13,192,707 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9597:Prdm14
|
UTSW |
1 |
13,192,657 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9658:Prdm14
|
UTSW |
1 |
13,189,145 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCCATACAGAACGAAGCTCAG -3'
(R):5'- CAGTCACTTTAGGAACCTCGCCAC -3'
Sequencing Primer
(F):5'- AGTTCCTCCTCTGTGAAGTTGAAG -3'
(R):5'- GAGTTTCAACCTTGGAAACTGGC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation